Revesz syndrome
Synonyms: Dyskeratosis congenita with bilateral exudative retinopathy | Retinopathy-anemia-central nervous system anomalies syndrome | Revesz-DeBuse syndrome
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood characterized by features of DC (e.g. skin hyper/hypopigmentation nail dystrophy oral leukoplakia high risk of bone marrow failure (BMF) and cancer developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy and intracranial calcifications.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Revesz syndrome?
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Advocacy Organizations
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Youth And Women for Opportunities Uganda-YWOU
Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices
Clinical Trials
For a list of clinical trials in this disease area, please click here.